Two Siblings With Congenital Central Hypothyroidism Caused by a Novel Mutation in the IGSF1 Gene

Clinical Pediatric Endocrinology - Japan
doi 10.1297/cpe.27.95
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Japanese Society for Pediatric Endocrinology

Related search

Congenital Central Hypothyroidism Due to a Homozygous Mutation in theTSHβSubunit Gene

Case Reports in Pediatrics
2011English

A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family

JCRPE Journal of Clinical Research in Pediatric Endocrinology
Child HealthEndocrinologyPerinatologyPediatricsMetabolismDiabetes
2015English

Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings

Movement Disorders Clinical Practice
Neurology
2019English

A Novel Mutation in the TG Gene (G2322S) Causing Congenital Hypothyroidism in a Sudanese Family: A Case Report

BMC Medical Genetics
Genetics
2018English

Dyskeratosis Congenita Caused by a Novel TERT Point Mutation in Siblings With Pancytopenia and Exudative Retinopathy

Pediatric Blood and Cancer
OncologyChild HealthHematologyPerinatologyMedicinePediatrics
2014English

A Novel Mutation of Laminin Β2 (LAMB2) in Two Siblings With Renal Failure

European Journal of Pediatrics
Child HealthPediatricsPerinatology
2017English

Hyperimmunoglobulinaemia D Syndrome in India: Report of Two Siblings With a Novel Mutation

Annals of the Rheumatic Diseases
ImmunologyMolecular BiologyBiochemistryRheumatologyAllergyGenetics
2006English

Outcome of 3 Siblings With Antibody-Mediated Transient Congenital Hypothyroidism

Pediatric Research
Child HealthPediatricsPerinatology
1993English

Mutation Screening of the Thyroid Peroxidase Gene in a Cohort of 55 Portuguese Patients With Congenital Hypothyroidism

European Journal of Endocrinology
MedicineEndocrinologyMetabolismDiabetes
2005English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy